I18D (p.Ile18Asp) variant of IRF8 (Interferon regulatory factor 8)
I18D (p.Ile18Asp) in IRF8 (Interferon regulatory factor 8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
I18D (p.Ile18Asp) variant details
- p.Ile18Asp
- gnomAD 16-85903065-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available